Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.T8T

c.24G>C

Surrounding Variants

1 paper

NM_000251.3

p.T8T

c.24G>T

1 paper

NM_000251.3

p.L9delFs

c.25_26delCT

1 paper

NM_000251.3

p.L9_R21del13

c.25_62del39

2 papers

NM_000251.3

p.T8K

c.23C>A

1 paper

NM_000251.3

p.L9fs

c.25_26fs

1 paper

NM_000251.3

p.T8insFs

c.23_24ins23

1 paper

NM_000251.3

p.T8ins8

c.23_24ins24

1 paper

NM_000251.3

p.L9insFs

c.26dupT

1 paper

NM_000251.3

p.L9insFs

c.26_27dupTG

5 papers

NM_000251.3

p.T8R

c.23C>G

2 papers

NM_000251.3

p.L9V

c.25C>G

62 papers

NM_000251.3

p.T8M

c.23C>T